Incidental Mutation 'IGL02574:Diras1'
ID 299134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diras1
Ensembl Gene ENSMUSG00000043670
Gene Name DIRAS family, GTP-binding RAS-like 1
Synonyms GBTS1, Di-Ras1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # IGL02574
Quality Score
Status
Chromosome 10
Chromosomal Location 80855423-80861496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80858119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 44 (Y44C)
Ref Sequence ENSEMBL: ENSMUSP00000120173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055125] [ENSMUST00000144640]
AlphaFold Q91Z61
Predicted Effect probably damaging
Transcript: ENSMUST00000055125
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055605
Gene: ENSMUSG00000043670
AA Change: Y44C

DomainStartEndE-ValueType
RAS 5 171 1.14e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144640
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120173
Gene: ENSMUSG00000043670
AA Change: Y44C

DomainStartEndE-ValueType
Pfam:Miro 9 108 3.4e-17 PFAM
Pfam:Ras 9 108 2.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151873
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
Allele List at MGI

All alleles(5) : Targeted(3) Gene trapped(2)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 42,916,919 (GRCm39) D409G probably damaging Het
AW551984 A C 9: 39,500,382 (GRCm39) L792R possibly damaging Het
Cep192 A G 18: 67,974,350 (GRCm39) E1151G probably damaging Het
Cfap44 C A 16: 44,301,746 (GRCm39) P1828Q probably damaging Het
Chid1 A T 7: 141,076,603 (GRCm39) probably benign Het
Col6a6 C A 9: 105,659,390 (GRCm39) L518F probably damaging Het
Ctsz C T 2: 174,270,891 (GRCm39) R201K probably benign Het
Grip1 T C 10: 119,778,818 (GRCm39) V159A probably damaging Het
Hpd T C 5: 123,317,420 (GRCm39) probably benign Het
Jag2 T C 12: 112,879,131 (GRCm39) N463S probably benign Het
Katnip A G 7: 125,428,925 (GRCm39) T516A possibly damaging Het
Kmt2a C A 9: 44,741,810 (GRCm39) probably benign Het
Myo5a A G 9: 75,118,429 (GRCm39) N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 (GRCm39) probably null Het
Or12d13 G T 17: 37,647,415 (GRCm39) A236E probably damaging Het
Or2n1b C T 17: 38,460,280 (GRCm39) T267I possibly damaging Het
Pacsin2 G T 15: 83,272,864 (GRCm39) A154E possibly damaging Het
Plcd4 A T 1: 74,603,539 (GRCm39) I647F probably damaging Het
Prdm10 C T 9: 31,268,589 (GRCm39) A846V probably damaging Het
Ptgs2 G T 1: 149,978,526 (GRCm39) G213* probably null Het
Rcan3 C T 4: 135,152,706 (GRCm39) S5N probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Serpinc1 A G 1: 160,830,029 (GRCm39) N465S probably benign Het
Slc40a1 T C 1: 45,951,534 (GRCm39) I208V possibly damaging Het
Vcl C T 14: 20,979,643 (GRCm39) Q19* probably null Het
Other mutations in Diras1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Diras1 APN 10 80,858,249 (GRCm39) start codon destroyed probably damaging 1.00
IGL03178:Diras1 APN 10 80,858,211 (GRCm39) missense possibly damaging 0.70
R0044:Diras1 UTSW 10 80,857,972 (GRCm39) nonsense probably null
R0044:Diras1 UTSW 10 80,857,972 (GRCm39) nonsense probably null
R4343:Diras1 UTSW 10 80,858,018 (GRCm39) nonsense probably null
R5289:Diras1 UTSW 10 80,858,078 (GRCm39) nonsense probably null
R5707:Diras1 UTSW 10 80,857,915 (GRCm39) missense probably benign 0.11
R7752:Diras1 UTSW 10 80,857,895 (GRCm39) missense probably damaging 1.00
Z1177:Diras1 UTSW 10 80,858,116 (GRCm39) missense possibly damaging 0.64
Posted On 2015-04-16